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Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population

BACKGROUND: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routine screening program for SMA in the UK. Lack of treatments and the inability of screening tests to accurately predict disease severity are...

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Autores principales: Boardman, Felicity K., Sadler, Chloe, Young, Philip J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823674/
https://www.ncbi.nlm.nih.gov/pubmed/29169204
http://dx.doi.org/10.1002/mgg3.353
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author Boardman, Felicity K.
Sadler, Chloe
Young, Philip J.
author_facet Boardman, Felicity K.
Sadler, Chloe
Young, Philip J.
author_sort Boardman, Felicity K.
collection PubMed
description BACKGROUND: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routine screening program for SMA in the UK. Lack of treatments and the inability of screening tests to accurately predict disease severity are among the key reasons implementation of screening has faltered in the UK. With the recent release of the first therapy for SMA (Nusinersen), calls are being made for a reconsideration of this stance; however, very little is known about the views of the general public. METHODS: An online survey was administered to 232 individuals with no prior relationship with SMA to assess their attitudes toward a newborn screening program for it. Results are compared with previously gathered data on the views of SMA‐affected families toward screening. RESULTS: Eighty‐four percent of participants were in favor of newborn screening. Key reasons for support were a belief that it would lead to better healthcare and life expectancy for affected infants and facilitate informed decision‐making for future pregnancies. Key reasons for nonsupport were a belief in the potential for significant negative impact on the family unit in terms of bonding and stress. CONCLUSIONS: Public acceptability is a key component in the evaluation of any potential screening program in the UK. This study demonstrates that newborn screening for SMA is viewed largely positively by people unfamiliar with the condition. The importance of early identification overrode all other social and ethical concerns about screening for the majority of participants.
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spelling pubmed-58236742018-02-28 Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population Boardman, Felicity K. Sadler, Chloe Young, Philip J. Mol Genet Genomic Med Original Articles BACKGROUND: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routine screening program for SMA in the UK. Lack of treatments and the inability of screening tests to accurately predict disease severity are among the key reasons implementation of screening has faltered in the UK. With the recent release of the first therapy for SMA (Nusinersen), calls are being made for a reconsideration of this stance; however, very little is known about the views of the general public. METHODS: An online survey was administered to 232 individuals with no prior relationship with SMA to assess their attitudes toward a newborn screening program for it. Results are compared with previously gathered data on the views of SMA‐affected families toward screening. RESULTS: Eighty‐four percent of participants were in favor of newborn screening. Key reasons for support were a belief that it would lead to better healthcare and life expectancy for affected infants and facilitate informed decision‐making for future pregnancies. Key reasons for nonsupport were a belief in the potential for significant negative impact on the family unit in terms of bonding and stress. CONCLUSIONS: Public acceptability is a key component in the evaluation of any potential screening program in the UK. This study demonstrates that newborn screening for SMA is viewed largely positively by people unfamiliar with the condition. The importance of early identification overrode all other social and ethical concerns about screening for the majority of participants. John Wiley and Sons Inc. 2017-11-23 /pmc/articles/PMC5823674/ /pubmed/29169204 http://dx.doi.org/10.1002/mgg3.353 Text en © 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Boardman, Felicity K.
Sadler, Chloe
Young, Philip J.
Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population
title Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population
title_full Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population
title_fullStr Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population
title_full_unstemmed Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population
title_short Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population
title_sort newborn genetic screening for spinal muscular atrophy in the uk: the views of the general population
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823674/
https://www.ncbi.nlm.nih.gov/pubmed/29169204
http://dx.doi.org/10.1002/mgg3.353
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